miglustat / Generic mfg. - LARVOL DELTA

Comprehensive review of recent advances in Pompe disease: pathogenesis, management, and future directions. (PubMed, Front Neurol) - "Next-generation ERTs, including avalglucosidase alfa and cipaglucosidase alfa combined with miglustat, have improved outcomes and safety...Despite progress, challenges remain in early detection, long-term management, and healthcare resource allocation. Future success requires integrated strategies combining NBS, innovative therapeutics, sensitive monitoring, and supportive policies."

Journal • Review • Gene Therapies • Lysosomal Storage Diseases • Metabolic Disorders • Pompe Disease • Rare Diseases

Survival, Clinical, and Biomarker Data Support the Efficacy of Intrathecal Adrabetadex in Niemann-Pick Disease Type C (ACMG 2026) - "Survival analysis compared adrabetadex-treated individuals with infantile neurological onset NPC with data from four independent control datasets using a many-to-one matching which controlled age, miglustat use and age of neurological onset. The efficacy of intrathecal adrabetadex in individuals with NPC is supported by biomarker data showing improved intracellular neuronal cholesterol trafficking, reduced CSF proteins indicative of cerebellar and pan-neuronal damage, and slowed progression of neurological symptoms. Clinical benefit is further evidenced by substantially improved survival in individuals with severe, infantile-onset neurological disease when compared to matched external controls. Together, these data suggest adrabetadex addresses the core pathology of NPC and supports its potential as a disease-modifying therapy for individuals with NPC."

Biomarker • Clinical • Alzheimer's Disease • Ataxia • CNS Disorders • Cognitive Disorders • Frontotemporal Lobar Degeneration • Genetic Disorders • Lysosomal Storage Diseases • Metabolic Disorders • Movement Disorders • Rare Diseases • CALB1 • FABP3 • NPC2

90-month Muscle Function and Biomarker Outcomes With Cipaglucosidase Alfa Plus Miglustat (Cipa+Mig) in Adults With Pompe Disease in ATB200-02, an Open-label Phase I/II Study (AAN 2026) - P1/2 | "Cipa+mig was generally well tolerated up to month 90. Across patient populations, long-term treatment with cipa+mig demonstrated durable stability or improvements in muscle function and biomarker outcomes over 7.5 years, with consistent trends despite the inherent variability of small patient cohorts, especially at later time points. Supported by Amicus Therapeutics, Inc."

Biomarker • Clinical • P1/2 data • Pompe Disease

Comparing the efficacy of cipaglucosidase alfa plus miglustat with alglucosidase alfa for late-onset Pompe disease: an expanded network meta-analysis utilizing patient-level and aggregate data. (PubMed, J Comp Eff Res) - "Aim: Treatment options for late-onset Pompe disease (LOPD) include enzyme replacement therapy (ERT) with alglucosidase alfa (alg), cipaglucosidase alfa plus miglustat (cipa + mig) and avalglucosidase alfa...Materials & A Bayesian ML-NMR was conducted to compare the efficacy of cipa + mig and alg for 6-minute walk distance (6MWD, meters) and percent predicted forced vital capacity (ppFVC) across any target population, using patient-level and aggregate data from RCTs (PROPEL, COMET, LOTS) and phase I/II and open-label extension (OLE) trials (PROPEL OLE, LOTS OLE, COMET OLE, ATB200-02, NEO-1/NEO-EXT), adjusting for baseline covariates... Cipa + mig was associated with an improvement in 6MWD and ppFVC relative to alg independent of prior ERT exposure, which appeared more favorable when all available evidence was used. These data could inform decision-making in treating ERT-naive and ERT-experienced patients with LOPD."

Journal • Retrospective data • Myositis • Pompe Disease

Identification of serum protein biomarkers in individuals with Niemann-Pick disease, type C1. (PubMed, medRxiv) - P | "p-value < 0.1 when comparing NPC1 individuals not being treated with miglustat versus control serum samples...These proteins may have clinical utility as biomarkers and provide insights into cellular mechanisms contributing to NPC1 disease pathology. NCT00344331 (Registration on 2006-06-23)."

Biomarker • Journal • CNS Disorders • Frontotemporal Lobar Degeneration • Genetic Disorders • Lysosomal Storage Diseases • Metabolic Disorders • BDNF • CCL18 • GPNMB

PRISMA: A Study to Evaluate the Safety and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease (clinicaltrials.gov) - P2 | N=21 | Recruiting | Sponsor: Azafaros A.G. | Not yet recruiting ➔ Recruiting

Enrollment open • Genetic Disorders • Lysosomal Storage Diseases

A very late form of Niemann-Pick type C disease mimicking progressive supranuclear palsy. (HMGC 2026) - "The introduction of Miglustat led to stabilization of the SARA score and improved swallowing, with weight gain occurring after one year of follow-up...We report here the latest known case of NPC. This case highlights the importance of not ruling out this diagnosis in cases of PSP, even at a late age, and of drawing attention to these very late-onset forms, which are likely underdiagnosed but treatable."

Alzheimer's Disease • Ataxia • CNS Disorders • Dementia • Dyslipidemia • Frontotemporal Lobar Degeneration • Genetic Disorders • Immunology • Lysosomal Storage Diseases • Metabolic Disorders • Movement Disorders • Parkinson's Disease • Progressive Supranuclear Palsy • Rare Diseases

Enzyme replacement therapy compared with best supportive care for the treatment of Pompe Disease: a systematic review and network meta-analysis. (PubMed, Health Technol Assess) - "However, there is limited evidence to suggest meaningful differences in outcomes between alglucosidase alfa, avalglucosidase alfa and cipaglucosidase alfa with miglustat. Long-term comparative effectiveness remains uncertain, as does enzyme replacement therapy's impact on disease progression and supportive care needs. This article presents independent research funded by the National Institute for Health and Care Research (NIHR) Evidence Synthesis programme as award number NIHR161219."

Journal • Retrospective data • Review • Metabolic Disorders • Pompe Disease • Respiratory Diseases

90-Month Efficacy Outcomes with Cipaglucosidase Alfa plus Miglustat in Adults with Pompe Disease in ATB200-02, an Open-Label Phase I/II Study (ACMG 2026) - P1/2 | "Long-term treatment with cipa+mig demonstrated durable stability or improvements in muscle, pulmonary, biomarkers and patient-reported outcomes across Pompe disease populations over 7.5 years. Trends were evident despite the inherent variability of small participant cohorts, which particularly affected the later time points. Supported by Amicus Therapeutics, Inc."

Clinical • P1/2 data • B Cell Lymphoma • Dermatology • Diffuse Large B Cell Lymphoma • Hematological Malignancies • Immunology • Lymphoma • Non-Hodgkin’s Lymphoma • Pompe Disease • Septic Shock • Urticaria

First multicenter real-world analysis of switching to next-generation enzyme replacement therapies in late-onset Pompe disease. (PubMed, J Neurol) - "This real-world study suggests that transitions between ERT preparations are generally feasible and associated with clinical stability in LOPD. Switching may represent a useful strategy in patients, particularly when efficacy concerns arise. Standardized prospective studies with systematic monitoring of immunogenicity and efficacy according to the 2024 EOPC guideline are recommended to confirm these findings."

Journal • Observational data • Real-world evidence • CNS Disorders • Pompe Disease

N-Alkyl Derivatives of Deoxynojirimycin (DNJ) as Antiviral Agents: Overview and Update. (PubMed, Molecules) - "N-Butyl-deoxynojirimycin (N-butyl-DNJ; NB-DNJ; also known as miglustat or UV-1) has been developed for the treatment of type 1 Gaucher disease and Niemann-Pick disease type C as Zavesca®...Since different names are often used for the same compound, we tried to dissipate confusion and bring some order to this jumble of names. Specifically, in the tables, all the diverse names used to identify each compound, were reported."

Journal • Review • Dengue Fever • Frontotemporal Lobar Degeneration • Gaucher Disease • Genetic Disorders • Infectious Disease • Influenza • Lysosomal Storage Diseases • Metabolic Disorders • Respiratory Diseases • Type 1 Gaucher Disease

Analysis of NPC1 Genotypes: Findings from the US Arimoclomol Expanded Access Program for Niemann-Pick Type C (ACMG 2026) - P | "Arimoclomol is the first FDA-approved treatment for NPC in combination with miglustat... In our NPC patient cohort, we observed 86 unique genotypes and identified 13 novel variants not reported previously in ClinVar. This large cohort of NPC1 patients contributes valuable data to the understanding of disease variability. Similar to other publications in the NPC space, the findings revalidate that the number of novel variants identified in NPC patients make genotype-phenotype correlations a challenge."

CNS Disorders • Frontotemporal Lobar Degeneration • Genetic Disorders • Lysosomal Storage Diseases • Metabolic Disorders • Rare Diseases • NPC2

PRISMA: A Study to Evaluate the Safety and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease (clinicaltrials.gov) - P2 | N=21 | Not yet recruiting | Sponsor: Azafaros A.G.

New P2 trial • Genetic Disorders • Lysosomal Storage Diseases

Clinically important improvements in 6-minute walk distance and forced vital capacity in adults with late-onset Pompe disease switching from alglucosidase alfa to cipaglucosidase alfa plus miglustat in the PROPEL study. (PubMed, Neuromuscul Disord) - P3 | "For combined responses from 6MWD (% predicted) and FVC (% predicted), the odds of a better versus a lower response category (improvement > stability > worsening) were 4.05 (95 % confidence interval 1.73-9.51) times higher for cipa+mig than alg+pbo (P = 0.0013). Adults with LOPD switching from alg to cipa+mig have greater chances of clinically relevant motor and lung function improvements than those remaining on alg."

Journal • Lysosomal Storage Diseases • Metabolic Disorders • Pompe Disease • Rare Diseases

Adverse Event Profile Differences Between Eliglustat and Miglustat: A Pharmacovigilance Study using the U.S. Food and Drug Administration Adverse Event Reporting System. (PubMed, Drug Res (Stuttg)) - "Notably, male patients treated with eliglustat have the significantly higher incidence of weight increase and dry skin. Female patients treated with miglustat have the significantly higher incidence of dysphagia and cognitive disorder.In the clinical administration of eliglustat and miglustat, clinicians need to monitor the effects of adverse events varied by gender and to pay more attention to new adverse event signals."

Adverse events • Journal • Atopic Dermatitis • CNS Disorders • Cognitive Disorders • Dermatology • Developmental Disorders • Dyspepsia • Gastrointestinal Disorder • Immunology • Vitiligo

Safety of home administration of cipaglucosidase alfa plus miglustat in late-onset Pompe disease: results from multiple clinical trials. (PubMed, Ther Adv Rare Dis) - P1/2, P3 | "Two patients with ⩾1 home-based treatment experienced serious IARs. Analyses support the safety of home cipa + mig treatment in eligible adults with LOPD."

Journal • Pompe Disease

Synthesis and integrative multimodal evaluation of cholic acid-based hydrazone conjugates: in vitro, in silico, and in vivo studies. (PubMed, Naunyn Schmiedebergs Arch Pharmacol) - "Both the compounds exhibited greater % inhibition against Hela cell line as compared to doxorubicin, suggesting greater inhibitory activity. MEBCH was the superior inhibitor of acetylcholinesterase (IC50 1.67 ± 0.61 µM), surpassing the standard donepezil (IC50 3.13 ± 0.1 µM), and demonstrated effective tyrosinase inhibition (IC50 1.87 ± 0.88 µM), comparable to kojic acid (IC50 2.38 ± 0.75 µM). Both of these compounds demonstrated effective β-glucosidase inhibition with an IC50 ≈ 2.23 µM, comparable to standard miglustat (IC50 2.02 ± 1.05 µM)...Single-dose oral pharmacokinetics (10 mg/kg) in rats revealed MEBCH with higher Cmax, AUC, longer t1/2, and greater oral bioavailability than DFBCH. Collectively, these data nominate MEBCH as a lead cholic-hydrazone for further preclinical development against enzyme targets relevant to neurological and oxidative-stress pathways."

Journal • Preclinical • Pain • Tyrosinase

Drug-induced urinary incontinence in pediatric patients: A disproportionality analysis of the FDA Adverse Event Reporting System. (PubMed, Medicine (Baltimore)) - "Montelukast was the most frequently reported drug (91 cases), followed by risperidone (74 cases)...The top 3 drugs with the strongest signals were glipizide (ROR = 141.1, 95% CI 37.4-532.4; PRR = 102.9), ropinirole (ROR = 125.7, 95% CI 49.8-317.2; PRR = 94.5), and sodium oxybate (ROR = 19.8, 95% CI 15.1-26.0; PRR = 18.9). Twenty-two drugs, such as montelukast, sodium oxybate, and sertraline, had a higher risk of UI in children than in adults. We also discovered unexpected associations, such as miglustat, tisagenlecleucel, and vamorolone. This study systematically identified a range of drugs, including several unexpected ones, associated with PUI. These findings enhance the understanding of the safety profile of drugs associated with PUI and provide important insights for optimizing clinical practice in pediatrics."

Adverse events • Journal • Pediatrics • Urinary Incontinence • Urology

ROSSELLA: A Study to Evaluate the Safety, Efficacy, PK, PD and Immunogenicity of Cipaglucosidase Alfa/Miglustat in IOPD Subjects Aged 0 to <18 (clinicaltrials.gov) - P3 | N=36 | Recruiting | Sponsor: Amicus Therapeutics | Trial completion date: Apr 2027 ➔ Jul 2027 | Trial primary completion date: Apr 2027 ➔ Jul 2027

Trial completion date • Trial primary completion date • Metabolic Disorders • Pediatrics • Pompe Disease

INVESTIGATION OF DIPYRIDAMOLE-ELICITED SIGNALING IN THE BRAIN OF NIEMANN PICK TYPE C MICE: A MULTI-OMIC STUDY. (PubMed, Brain Res Bull) - "In fact, miglustat is the only approved drug and L-acetylleucine was recently granted for marketing authorization by European Medicine Agency. Interestingly, the most affected pathways in the hippocampus of Npc1-/- mice administered with DIP were those related to cGMP-PKG activation and to mitochondrial function. Our results paved the way to test DIP in experimental models of other neurodegenerative disorders, such as Alzheimer's disease that is similarly marked by hippocampal and mitochondrial dysfunctions."

Journal • Preclinical • Alzheimer's Disease • CNS Disorders • Metabolic Disorders • CALB1

Miglustat does not impact clinical progression in patients with spastic paraplegia type 11. (PubMed, Neurogenetics) - "Although it showed an acceptable safety profile and no SAEs, miglustat did not significantly modify plasma sphingolipid and ganglioside profiles. Its potential therapeutic impact remains low."

Journal • Genetic Disorders

NEO1 modulates the A1 astrocyte polarization in subarachnoid hemorrhage through the cPLA2-MAVS signaling pathway. (PubMed, J Neuroinflammation) - "Furthermore, miglustat administration significantly attenuated neuroinflammation and improved neurological functional recovery following SAH. Collectively, our findings reveal that NEO1 inhibition alleviates A1 astrocyte polarization following SAH through the cPLA2-MAVS pathway."

Journal • Hematological Disorders • Inflammation • Subarachnoid Hemorrhage • GFAP

Cipaglucosidase alfa plus miglustat in Pompe disease: two non-ambulatory patients switching from high‑dose, high-frequency alglucosidase alfa. (PubMed, Neuromuscul Disord) - "We analyzed outcomes in two non-ambulatory patients in study ATB200-02 who received alg for >13 years (including >2 years' HDHF) before switching to cipa+mig (20 mg/kg + 260 mg every 2 weeks). The two patients experienced 11 non-serious adverse events (no infusion-associated reactions). Data provide information for clinicians considering a transition from HDHF alg to cipa+mig."

Journal • Fatigue • Lysosomal Storage Diseases • Metabolic Disorders • Pompe Disease • Rare Diseases

Miglustat in Alzheimer's Disease Associated With Heterozygous NPC1 Mutation: Exploratory Case Series and Preliminary Findings. (PubMed, Eur J Neurol) - "Based on our preliminary observations and hypothesis-generating findings, along with the growing evidence suggesting AD as a lipid disorder, miglustat should be further tested in a larger cohort of heterozygous NPC1 mutated patients and probably evaluated as a potential disease-modifying treatment for AD."

Journal • Alzheimer's Disease • CNS Disorders • Dementia • NPC1

Miglustat as a Treatment for Adults with Tangier Disease Neuropathy: The MUSTANG N-of-1 Trial with 21 months Clinical Observation. (PubMed, Neurol Ther) - "Miglustat may be used to treat neurological complications of TD. This study showed that an n-of-1 study to inform a policy decision is practical and may offer hope to patients with rare diseases."

Journal • Frontotemporal Lobar Degeneration • Gaucher Disease • Genetic Disorders • Lysosomal Storage Diseases • Metabolic Disorders • Pain • Rare Diseases